S63F (p.Ser63Phe) variant of OPA1 (O60313)
S63F (p.Ser63Phe) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- gnomAD 3-193614878-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available
- Literature evidence available